ClinVar Miner

List of variants reported as pathogenic for Mental retardation, X-linked, syndromic, Turner type by Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital

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Total variants: 3

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HGVS	dbSNP
NM_031407.7(HUWE1):c.12928G>C (p.Gly4310Arg)	rs1556909287
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln)	rs1557036768
NM_031407.7(HUWE1):c.567+1G>C	rs1557024919

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